Unraveling the Cardiac Conundrum: Elucidating the Complex Interplay of Fabry Disease and its Myocardial Implications

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Ruiz Gómez, María Fernanda
Sandoval Correa Santiago
Roberto de Jesus Martinez Camacho
Mercado Valero Silvia Selene
Caldera Gonzalez Valeria Guadalupe
Consuelo Alejandra Aguirre González
Rafael Cabrales García
Flores Hernandez Gilberto
Luis Carlos Caporal Trejo
Hayil Linaldi Sierra
Francisco Alejandro González Orozco
Marcos Vela Rivera
Erick Fernando Murillo Duarte

Abstract

Fabry Disease, a rare X-linked lysosomal storage disorder stemming from alpha-galactosidase A deficiency, has emerged as a multifaceted clinical enigma with profound systemic repercussions. While its multisystemic involvement is well-documented, this article delves into the intricate tapestry of Fabry Disease, focusing keenly on its cardiac implications. The myocardium, subjected to relentless glycosphingolipid deposition and subsequent cascades of molecular maladaptations, becomes a pivotal arena for clinical manifestations.


This comprehensive exploration navigates through the molecular intricacies of Fabry-related cardiac pathology, elucidating the underpinnings of ventricular hypertrophy, diastolic dysfunction, and arrhythmogenic predispositions. The interplay between endothelial dysfunction, fibrotic remodeling, and the orchestration of cellular responses within the cardiac milieu unfolds, providing a nuanced understanding of the disease's cardiovascular impact.


Furthermore, we scrutinize the evolving landscape of therapeutic interventions, ranging from conventional enzyme replacement therapy to cutting-edge gene therapies. By unraveling the complexities of Fabry Disease's cardiac manifestations, this article aspires to contribute to the refinement of clinical management strategies, offering a beacon of hope to those navigating the intricate interplay of genetic anomalies and cardiovascular compromise. As we venture into this scientific odyssey, the synthesis of molecular insights and clinical implications aims to pave the way for improved patient outcomes and the advancement of targeted therapeutic modalities.

Article Details

How to Cite
Ruiz Gómez, María Fernanda, Sandoval Correa Santiago, Roberto de Jesus Martinez Camacho, Mercado Valero Silvia Selene, Caldera Gonzalez Valeria Guadalupe, Consuelo Alejandra Aguirre González, Rafael Cabrales García, Flores Hernandez Gilberto, Luis Carlos Caporal Trejo, Hayil Linaldi Sierra, Francisco Alejandro González Orozco, Marcos Vela Rivera, & Erick Fernando Murillo Duarte. (2023). Unraveling the Cardiac Conundrum: Elucidating the Complex Interplay of Fabry Disease and its Myocardial Implications. International Journal of Medical Science and Clinical Research Studies, 3(12), 3118–3122. https://doi.org/10.47191/ijmscrs/v3-i12-35
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